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UniProtKB - Q96DP5 (FMT_HUMAN)
Protein
Methionyl-tRNA formyltransferase, mitochondrial
Gene
MTFMT
Organism
Homo sapiens (Human)
Status
Functioni
Methionyl-tRNA formyltransferase that formylates methionyl-tRNA in mitochondria and is crucial for translation initiation.
2 PublicationsCatalytic activityi
- (6S)-10-formyltetrahydrofolate + L-methionyl-tRNAfMet = (6S)-5,6,7,8-tetrahydrofolate + H+ + N-formyl-L-methionyl-tRNAfMet1 PublicationEC:2.1.2.91 PublicationThis reaction proceeds in the forward1 Publication direction.
GO - Molecular functioni
- methionyl-tRNA formyltransferase activity Source: UniProtKB
GO - Biological processi
- conversion of methionyl-tRNA to N-formyl-methionyl-tRNA Source: UniProtKB
Keywordsi
Molecular function | Transferase |
Biological process | Protein biosynthesis |
Enzyme and pathway databases
BRENDAi | 2.1.2.9, 2681 |
PathwayCommonsi | Q96DP5 |
Reactomei | R-HSA-5368286, Mitochondrial translation initiation |
SignaLinki | Q96DP5 |
Names & Taxonomyi
Protein namesi | Recommended name: Methionyl-tRNA formyltransferase, mitochondrial (EC:2.1.2.92 Publications)Short name: MtFMT |
Gene namesi | Name:MTFMT Synonyms:FMT, FMT1 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:29666, MTFMT |
MIMi | 611766, gene |
neXtProti | NX_Q96DP5 |
VEuPathDBi | HostDB:ENSG00000103707 |
Subcellular locationi
Mitochondrion
- Mitochondrion By similarity
Mitochondrion
- mitochondrion Source: UniProtKB
Keywords - Cellular componenti
MitochondrionPathology & Biotechi
Involvement in diseasei
Combined oxidative phosphorylation deficiency 15 (COXPD15)2 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive, mitochondrial, neurologic disorder characterized by features of Leigh syndrome and combined oxidative phosphorylation deficiency. Clinical features include mild global developmental delay, white matter abnormalities, ataxia, incoordination, speech and reading difficulties, T2-weighted hyperintensities in the basal ganglia, corpus callosum, and brainstem.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_069303 | 125 | S → L in COXPD15; loss of methionyl-tRNA formyltransferase activity. 2 PublicationsCorresponds to variant dbSNP:rs397514614EnsemblClinVar. | 1 | |
Natural variantiVAR_069304 | 209 | S → L in COXPD15 and MC1DN27; decreased methionyl-tRNA formyltransferase activity. 3 PublicationsCorresponds to variant dbSNP:rs201431517EnsemblClinVar. | 1 |
Mitochondrial complex I deficiency, nuclear type 27 (MC1DN27)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA form of mitochondrial complex I deficiency, the most common biochemical signature of mitochondrial disorders, a group of highly heterogeneous conditions characterized by defective oxidative phosphorylation, which collectively affects 1 in 5-10000 live births. Clinical disorders have variable severity, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non-specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. MC1DN27 transmission pattern is consistent with autosomal recessive inheritance.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_069304 | 209 | S → L in COXPD15 and MC1DN27; decreased methionyl-tRNA formyltransferase activity. 3 PublicationsCorresponds to variant dbSNP:rs201431517EnsemblClinVar. | 1 | |
Natural variantiVAR_081461 | 332 – 389 | Missing in MC1DN27. 1 PublicationAdd BLAST | 58 |
Keywords - Diseasei
Disease variant, Primary mitochondrial diseaseOrganism-specific databases
DisGeNETi | 123263 |
GeneReviewsi | MTFMT |
MalaCardsi | MTFMT |
MIMi | 614947, phenotype 618248, phenotype |
OpenTargetsi | ENSG00000103707 |
Orphaneti | 319524, Combined oxidative phosphorylation defect type 15 255241, Leigh syndrome with leukodystrophy |
PharmGKBi | PA142671304 |
Miscellaneous databases
Pharosi | Q96DP5, Tbio |
Chemistry databases
DrugBanki | DB00116, Tetrahydrofolic acid |
Genetic variation databases
BioMutai | MTFMT |
DMDMi | 27923776 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Transit peptidei | 1 – ? | MitochondrionSequence analysis | ||
ChainiPRO_0000010093 | ? – 389 | Methionyl-tRNA formyltransferase, mitochondrial |
Proteomic databases
EPDi | Q96DP5 |
jPOSTi | Q96DP5 |
MassIVEi | Q96DP5 |
MaxQBi | Q96DP5 |
PaxDbi | Q96DP5 |
PeptideAtlasi | Q96DP5 |
PRIDEi | Q96DP5 |
ProteomicsDBi | 6828 76304 [Q96DP5-1] |
PTM databases
iPTMneti | Q96DP5 |
PhosphoSitePlusi | Q96DP5 |
Expressioni
Gene expression databases
Bgeei | ENSG00000103707, Expressed in left ventricle myocardium and 203 other tissues |
ExpressionAtlasi | Q96DP5, baseline and differential |
Genevisiblei | Q96DP5, HS |
Organism-specific databases
HPAi | ENSG00000103707, Low tissue specificity |
Interactioni
Protein-protein interaction databases
BioGRIDi | 125820, 94 interactors |
IntActi | Q96DP5, 5 interactors |
STRINGi | 9606.ENSP00000220058 |
Miscellaneous databases
RNActi | Q96DP5, protein |
Family & Domainsi
Domaini
Composed of an N- and a C-terminal domain. The N-terminal domain carries the tetrahydrofolate (THF)-binding site and the C-terminal domain is presumably involved in positioning the Met-tRNA substrate for the formylation reaction.
Sequence similaritiesi
Belongs to the Fmt family.Curated
Keywords - Domaini
Transit peptidePhylogenomic databases
eggNOGi | KOG3082, Eukaryota |
GeneTreei | ENSGT00390000017828 |
HOGENOMi | CLU_033347_0_0_1 |
InParanoidi | Q96DP5 |
OMAi | FMPELHA |
OrthoDBi | 963177at2759 |
PhylomeDBi | Q96DP5 |
TreeFami | TF323405 |
Family and domain databases
CDDi | cd08646, FMT_core_Met-tRNA-FMT_N, 1 hit |
InterProi | View protein in InterPro IPR005794, Fmt IPR005793, Formyl_trans_C IPR002376, Formyl_transf_N IPR036477, Formyl_transf_N_sf IPR011034, Formyl_transferase-like_C_sf IPR041711, Met-tRNA-FMT_N |
Pfami | View protein in Pfam PF02911, Formyl_trans_C, 1 hit PF00551, Formyl_trans_N, 1 hit |
SUPFAMi | SSF50486, SSF50486, 1 hit SSF53328, SSF53328, 1 hit |
TIGRFAMsi | TIGR00460, fmt, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All
Isoform 1 (identifier: Q96DP5-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MRVLVRRCWG PPLAHGARRG RPSPQWRALA RLGWEDCRDS RVREKPPWRV
60 70 80 90 100
LFFGTDQFAR EALRALHAAR ENKEEELIDK LEVVTMPSPS PKGLPVKQYA
110 120 130 140 150
VQSQLPVYEW PDVGSGEYDV GVVASFGRLL NEALILKFPY GILNVHPSCL
160 170 180 190 200
PRWRGPAPVI HTVLHGDTVT GVTIMQIRPK RFDVGPILKQ ETVPVPPKST
210 220 230 240 250
AKELEAVLSR LGANMLISVL KNLPESLSNG RQQPMEGATY APKISAGTSC
260 270 280 290 300
IKWEEQTSEQ IFRLYRAIGN IIPLQTLWMA NTIKLLDLVE VNSSVLADPK
310 320 330 340 350
LTGQALIPGS VIYHKQSQIL LVYCKDGWIG VRSVMLKKSL TATDFYNGYL
360 370 380
HPWYQKNSQA QPSQCRFQTL RLPTKKKQKK TVAMQQCIE
Computationally mapped potential isoform sequencesi
There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basketH3BTN9 | H3BTN9_HUMAN | Methionyl-tRNA formyltransferase, m... | MTFMT | 134 | Annotation score: |
Sequence cautioni
The sequence AAH16630 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.Curated
The sequence AAH33687 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.Curated
The sequence BAB70984 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_059289 | 5 | V → A. Corresponds to variant dbSNP:rs2946655EnsemblClinVar. | 1 | |
Natural variantiVAR_069303 | 125 | S → L in COXPD15; loss of methionyl-tRNA formyltransferase activity. 2 PublicationsCorresponds to variant dbSNP:rs397514614EnsemblClinVar. | 1 | |
Natural variantiVAR_069304 | 209 | S → L in COXPD15 and MC1DN27; decreased methionyl-tRNA formyltransferase activity. 3 PublicationsCorresponds to variant dbSNP:rs201431517EnsemblClinVar. | 1 | |
Natural variantiVAR_081461 | 332 – 389 | Missing in MC1DN27. 1 PublicationAdd BLAST | 58 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_057059 | 141 – 144 | GILN → SFQF in isoform 2. 1 Publication | 4 | |
Alternative sequenceiVSP_057060 | 145 – 389 | Missing in isoform 2. 1 PublicationAdd BLAST | 245 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AK055688 mRNA Translation: BAB70984.1 Different initiation. AK301390 mRNA Translation: BAH13470.1 AC013553 Genomic DNA No translation available. AC103691 Genomic DNA No translation available. BC016630 mRNA Translation: AAH16630.2 Different initiation. BC033687 mRNA Translation: AAH33687.1 Different initiation. |
CCDSi | CCDS45280.1 [Q96DP5-1] |
RefSeqi | NP_640335.2, NM_139242.3 [Q96DP5-1] |
Genome annotation databases
Ensembli | ENST00000220058.9; ENSP00000220058.4; ENSG00000103707.10 ENST00000543678.1; ENSP00000443754.1; ENSG00000103707.10 [Q96DP5-2] ENST00000558460.5; ENSP00000452646.1; ENSG00000103707.10 |
GeneIDi | 123263 |
KEGGi | hsa:123263 |
MANE-Selecti | ENST00000220058.9; ENSP00000220058.4; NM_139242.4; NP_640335.2 |
UCSCi | uc002aof.5, human [Q96DP5-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AK055688 mRNA Translation: BAB70984.1 Different initiation. AK301390 mRNA Translation: BAH13470.1 AC013553 Genomic DNA No translation available. AC103691 Genomic DNA No translation available. BC016630 mRNA Translation: AAH16630.2 Different initiation. BC033687 mRNA Translation: AAH33687.1 Different initiation. |
CCDSi | CCDS45280.1 [Q96DP5-1] |
RefSeqi | NP_640335.2, NM_139242.3 [Q96DP5-1] |
3D structure databases
AlphaFoldDBi | Q96DP5 |
SMRi | Q96DP5 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 125820, 94 interactors |
IntActi | Q96DP5, 5 interactors |
STRINGi | 9606.ENSP00000220058 |
Chemistry databases
DrugBanki | DB00116, Tetrahydrofolic acid |
PTM databases
iPTMneti | Q96DP5 |
PhosphoSitePlusi | Q96DP5 |
Genetic variation databases
BioMutai | MTFMT |
DMDMi | 27923776 |
Proteomic databases
EPDi | Q96DP5 |
jPOSTi | Q96DP5 |
MassIVEi | Q96DP5 |
MaxQBi | Q96DP5 |
PaxDbi | Q96DP5 |
PeptideAtlasi | Q96DP5 |
PRIDEi | Q96DP5 |
ProteomicsDBi | 6828 76304 [Q96DP5-1] |
Protocols and materials databases
Antibodypediai | 25895, 153 antibodies from 14 providers |
DNASUi | 123263 |
Genome annotation databases
Ensembli | ENST00000220058.9; ENSP00000220058.4; ENSG00000103707.10 ENST00000543678.1; ENSP00000443754.1; ENSG00000103707.10 [Q96DP5-2] ENST00000558460.5; ENSP00000452646.1; ENSG00000103707.10 |
GeneIDi | 123263 |
KEGGi | hsa:123263 |
MANE-Selecti | ENST00000220058.9; ENSP00000220058.4; NM_139242.4; NP_640335.2 |
UCSCi | uc002aof.5, human [Q96DP5-1] |
Organism-specific databases
CTDi | 123263 |
DisGeNETi | 123263 |
GeneCardsi | MTFMT |
GeneReviewsi | MTFMT |
HGNCi | HGNC:29666, MTFMT |
HPAi | ENSG00000103707, Low tissue specificity |
MalaCardsi | MTFMT |
MIMi | 611766, gene 614947, phenotype 618248, phenotype |
neXtProti | NX_Q96DP5 |
OpenTargetsi | ENSG00000103707 |
Orphaneti | 319524, Combined oxidative phosphorylation defect type 15 255241, Leigh syndrome with leukodystrophy |
PharmGKBi | PA142671304 |
VEuPathDBi | HostDB:ENSG00000103707 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG3082, Eukaryota |
GeneTreei | ENSGT00390000017828 |
HOGENOMi | CLU_033347_0_0_1 |
InParanoidi | Q96DP5 |
OMAi | FMPELHA |
OrthoDBi | 963177at2759 |
PhylomeDBi | Q96DP5 |
TreeFami | TF323405 |
Enzyme and pathway databases
BRENDAi | 2.1.2.9, 2681 |
PathwayCommonsi | Q96DP5 |
Reactomei | R-HSA-5368286, Mitochondrial translation initiation |
SignaLinki | Q96DP5 |
Miscellaneous databases
BioGRID-ORCSi | 123263, 141 hits in 1079 CRISPR screens |
ChiTaRSi | MTFMT, human |
GeneWikii | MTFMT |
GenomeRNAii | 123263 |
Pharosi | Q96DP5, Tbio |
PROi | PR:Q96DP5 |
RNActi | Q96DP5, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000103707, Expressed in left ventricle myocardium and 203 other tissues |
ExpressionAtlasi | Q96DP5, baseline and differential |
Genevisiblei | Q96DP5, HS |
Family and domain databases
CDDi | cd08646, FMT_core_Met-tRNA-FMT_N, 1 hit |
InterProi | View protein in InterPro IPR005794, Fmt IPR005793, Formyl_trans_C IPR002376, Formyl_transf_N IPR036477, Formyl_transf_N_sf IPR011034, Formyl_transferase-like_C_sf IPR041711, Met-tRNA-FMT_N |
Pfami | View protein in Pfam PF02911, Formyl_trans_C, 1 hit PF00551, Formyl_trans_N, 1 hit |
SUPFAMi | SSF50486, SSF50486, 1 hit SSF53328, SSF53328, 1 hit |
TIGRFAMsi | TIGR00460, fmt, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | FMT_HUMAN | |
Accessioni | Q96DP5Primary (citable) accession number: Q96DP5 Secondary accession number(s): B7Z734 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | January 27, 2003 |
Last sequence update: | January 27, 2003 | |
Last modified: | May 25, 2022 | |
This is version 172 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human chromosome 15
Human chromosome 15: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families